NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002467181.1
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu)]
NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
Homo sapiens defensin beta 134 (DEFB134), mRNA
Homo sapiens defensin beta 134 (DEFB134), mRNAgi|1889421876|ref|NM_001302695.2|Nucleotide
-
glucose-6-phosphate exchanger SLC37A2 isoform X1 [Homo sapiens]
glucose-6-phosphate exchanger SLC37A2 isoform X1 [Homo sapiens]gi|2462523586|ref|XP_054223964.1|Protein
-
Crossoptilon Smith Magenis syndrome chromosomal region candidate protein 8 (SMCR...
Crossoptilon Smith Magenis syndrome chromosomal region candidate protein 8 (SMCR8) gene, partial cds.PopSet: 1464278048PopSet
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Crossoptilon WD repeat containing protein 81 isoform X2 (WDR81) gene, partial cd...
Crossoptilon WD repeat containing protein 81 isoform X2 (WDR81) gene, partial cds.PopSet: 1464278298PopSet
-
COX3 [Onychostoma lini]
COX3 [Onychostoma lini]Gene ID:13080265Gene
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Last Updated: Dec 17, 2022